Variant Details for KIF24
Basic Information Top
| Gene Symbol: | KIF24 ( C9orf48,FLJ10933,FLJ43884,MGC125677,MGC125678,bA571F15.4 ) |
|---|---|
| Gene Full Name: | kinesin family member 24 |
| Band: | 9p13.3 |
| Quick Links | Entrez ID:347240; OMIM: NA; Uniprot ID:KIF24_HUMAN; ENSEMBL ID: ENSG00000186638; HGNC ID: 19916 |
| Relate to Another Database: | SFARIGene; denovo-db |
Variant Statistic Top
Click the link of the category-specific score to view different category of evidences. The categories without any evidences are hidden by default. Chromosome coordinates: hg19
| Genetic Category | CNVs/SVs | de novo Mutations | Mosaics SNVs | NGS Other Mutations | Low-Scale Gene Mutations | Linkage Regions | Total |
|---|---|---|---|---|---|---|---|
| Number | 2 | 1 | 0 | 0 | 0 | 0 | 3 |
CNVs/SVs Top
| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0000361 | 9 | 9p13.3 | 32810000 | 36310000 | 3500000 | external link | Zwaag, 2009 | |
| AutCNV0001099 | 9 | 9p13.3 | 34143307 | 34284727 | 141420 | gain | external link | Pinto, 2010 |
NGS de novo Mutations Top
iFish (integrated Functional inference of SNVs in human) is based on gene/gene family customized models to classify missense mutations.
| Chr | Pos | Ref | Alt | Coding | AA | Validated Method | iFish Prediction | iFish Probability | Reference |
|---|---|---|---|---|---|---|---|---|---|
| 9 | 34259682 | C | T | Sanger sequencing | deleterious | 0.9406 | De Rubeis S, 2014 |
NGS Mosaic Mutations Top
| Chr | Position | Ref | Alt | Genotype | Validated Method | Reference |
|---|---|---|---|---|---|---|
| No related data! | ||||||
NGS Other Mutations Top
| Chr | Pos | Ref | Alt | Coding | AA | Validated | iFish Prediction | iFish Probability | Reference |
|---|---|---|---|---|---|---|---|---|---|
| No related data! | |||||||||
Low-Scale Gene Mutations Top
| Chr | Pos | Ref | Alt | Coding | AA | Validated | iFish Prediction | iFish Probability | Reference |
|---|---|---|---|---|---|---|---|---|---|
| No related data! | |||||||||
Linkage Regions Top
| Linkage Name | Band | Chr | Marker | LOD | NPL | P Value | Reference |
|---|---|---|---|---|---|---|---|
| No related data! | |||||||

